5270[HGNC] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59112	GRCh38/hg38 19p13.2-13.12(chr19:12132052-14751798)x3	LOC129391074, LOC130063625 +351 more	Copy number gain	See cases	GPathogenic
Select item 146686	GRCh38/hg38 19p13.2-13.12(chr19:12580427-14742673)x1	ADGRE2, ADGRE3 +318 more	Copy number loss	See cases	GPathogenic
Select item 147284	GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1	ADGRE2, ADGRE3 +180 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 144765	GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1	ADGRE2, ADGRE3 +237 more	Copy number loss	See cases	GPathogenic
Select item 147745	GRCh38/hg38 19p13.12(chr19:14406909-15410770)x1	LOC130063788, LOC130063789 +77 more	Copy number loss	See cases	GUncertain significance
Select item 144311	GRCh38/hg38 19p13.12(chr19:14477761-15133653)x3	ADGRE2, ADGRE3 +41 more	Copy number gain	See cases	GUncertain significance
Select item 3084379	NM_006145.3(DNAJB1):c.1009G>T (p.Val337Phe)	DNAJB1 (V337F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084383	NM_006145.3(DNAJB1):c.998T>C (p.Val333Ala)	DNAJB1 (V233A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458922	NM_006145.3(DNAJB1):c.988T>A (p.Ser330Thr)	DNAJB1 (S230T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233910	NM_006145.3(DNAJB1):c.971A>G (p.Glu324Gly)	DNAJB1 (E224G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521680	NM_006145.3(DNAJB1):c.931C>T (p.Arg311Cys)	DNAJB1 (R311C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539630	NM_006145.3(DNAJB1):c.914C>T (p.Pro305Leu)	DNAJB1 (P205L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563974	NM_006145.3(DNAJB1):c.892C>A (p.Pro298Thr)	DNAJB1 (P298T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347252	NM_006145.3(DNAJB1):c.880C>T (p.Arg294Trp)	DNAJB1 (R294W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788141	NM_006145.3(DNAJB1):c.864T>C (p.Val288=)	DNAJB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3084381	NM_006145.3(DNAJB1):c.850G>A (p.Val284Ile)	DNAJB1 (V184I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715182	NM_006145.3(DNAJB1):c.816C>T (p.Asn272=)	DNAJB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3273026	NM_006145.3(DNAJB1):c.781A>G (p.Ser261Gly)	DNAJB1 (S261G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238546	NM_006145.3(DNAJB1):c.686A>G (p.Asn229Ser)	DNAJB1 (N129S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546263	NM_006145.3(DNAJB1):c.677A>G (p.Gln226Arg)	DNAJB1 (Q126R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273027	NM_006145.3(DNAJB1):c.573C>A (p.Asn191Lys)	DNAJB1 (N191K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357048	NM_006145.3(DNAJB1):c.428A>G (p.Asn143Ser)	DNAJB1 (N143S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370267	NM_006145.3(DNAJB1):c.406A>G (p.Met136Val)	DNAJB1 (M136V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3084380	NM_006145.3(DNAJB1):c.403C>T (p.Pro135Ser)	DNAJB1 (P35S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273028	NM_006145.3(DNAJB1):c.341C>A (p.Thr114Asn)	DNAJB1 (T114N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758224	NM_006145.3(DNAJB1):c.318C>T (p.Phe106=)	DNAJB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2464119	NM_006145.3(DNAJB1):c.303G>A (p.Met101Ile)	DNAJB1 (M101I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345147	NM_006145.3(DNAJB1):c.257A>G (p.Asn86Ser)	DNAJB1 (N86S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2209983	NM_006145.3(DNAJB1):c.217A>C (p.Lys73Gln)	DNAJB1 (K73Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3273025	NM_006145.3(DNAJB1):c.143T>C (p.Ile48Thr)	DNAJB1, LOC130063791 (I48T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266180	NM_006145.3(DNAJB1):c.135C>A (p.Phe45Leu)	DNAJB1, LOC130063791 (F45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409323	NM_006145.3(DNAJB1):c.119G>C (p.Gly40Ala)	DNAJB1, LOC130063791 (G40A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211700	NM_006145.3(DNAJB1):c.114G>T (p.Glu38Asp)	DNAJB1, LOC130063791 (E38D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084382	NM_006145.3(DNAJB1):c.88C>T (p.Arg30Cys)	DNAJB1 (R30C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 730071	NM_006145.3(DNAJB1):c.42C>G (p.Gly14=)	DNAJB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2209984	NM_006145.3(DNAJB1):c.31C>A (p.Leu11Met)	DNAJB1 (L11M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243547	NM_006145.3(DNAJB1):c.29G>A (p.Gly10Asp)	DNAJB1 (G10D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261621	NM_006145.3(DNAJB1):c.16T>C (p.Tyr6His)	DNAJB1 (Y6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 436969	NM_138501.6(TECR):c.15+6_15+8del	DNAJB1, TECR	Microsatellite (intron variant)	not specified	GUncertain significance
Select item 436970	NM_138501.6(TECR):c.15+10G>A	DNAJB1, TECR	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3062393	GRCh37/hg19 19p13.13-13.11(chr19:13970692-18139376)x3	CYP4F8, DCAF15 +109 more	Copy number gain	not specified	GUncertain significance
Select item 1526656	GRCh37/hg19 19p13.12-13.11(chr19:14124666-16431349)	ADGRE2, ADGRE3 +55 more	Copy number loss	not specified	GPathogenic
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 816068	GRCh37/hg19 19p13.12(chr19:14368330-15712368)x1	ADGRE2, ADGRE3 +30 more	Copy number loss	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443137	GRCh37/hg19 19p13.2-13.12(chr19:12574343-14726197)x1	ADGRE5, ADGRL1 +64 more	Copy number loss	See cases	GPathogenic
Select item 442731	GRCh37/hg19 19p13.2-13.12(chr19:13592592-14717528)x1	ADGRE5, ADGRL1 +30 more	Copy number loss	See cases	GLikely pathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 51